ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: CONE-ROD DYSTROPHY 3 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		G 0.700 CausalMutation CLINVAR Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. 24713488 2014
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		G 0.700 CausalMutation CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		G 0.700 CausalMutation CLINVAR Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 25082885 2014
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		G 0.700 CausalMutation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241 2014
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		G 0.700 CausalMutation CLINVAR Stargardt disease: towards developing a model to predict phenotype. 23695285 2013
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		G 0.700 CausalMutation CLINVAR Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. 22264887 2012
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		G 0.700 CausalMutation CLINVAR Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients. 22328824 2012
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		G 0.700 CausalMutation CLINVAR Loss of peripapillary sparing in non-group I Stargardt disease. 20696155 2010
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		G 0.700 CausalMutation CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458 2009
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1858806
Disease:
CONE-ROD DYSTROPHY 3 (disorder) 		G 0.700 CausalMutation CLINVAR A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763 2000